hg38
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Alternative splicing event annotation for Human assembly (hg38)
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Jan 5, 2021 - R
Modular RNA-seq variant calling and annotation framework (hg38) integrating STAR and GATK Best Practices to extract high-confidence SNPs and enable gene-level and systems biology analyses of expressed genetic variation.
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Mar 3, 2026 - Shell
Snakemake workflow to generate BAM alignment statistics on the BIH cluster.
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May 12, 2026 - Python
Reproducible benchmarks: VarNova vs ANNOVAR, VEP, and SnpEff. VarNova is 14× faster than ANNOVAR and 10.7× faster than VEP on full genomic variant annotation pipeline. Includes binary download, benchmark scripts, and test data.
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May 13, 2026 - Shell
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